Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L72H

TSC1

1,786 papers

RefSeq Summary

This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin...

Pfam Domains

Hamartinaa 7–71UCSCHamartin protein
Hamartinaa 7–719UCSCHamartin protein

Gene Aliases

HGNC Name

TSC complex subunit 1

HGNC Alias Symbols

KIAA0243; LAM; hamartin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000368.5
p.L72H
c.215T>A
Surrounding Variants
1 paper
NM_000368.5
p.L72R
c.215T>G
6 papers
NM_000368.5
p.L72P
c.215T>C
1 paper
NM_000368.5
p.L73L
c.217T>C
1 paper
NM_000368.5
p.H71Q
c.213C>G
1 paper
NM_000368.5
p.H71_L72insFs
c.213_214insT
1 paper
NM_000368.5
p.H71Q
c.213C>A
1 paper
NM_000368.5
p.H71R
c.212A>G
1 paper
NM_000368.5
p.H71N
c.211C>A
1 paper
NM_000368.5
p.D74N
c.220G>A
1 paper
NM_000368.5
p.K70_H71Splc
c.211-1G>A
1 paper
NM_000368.5
p.L73delFs
c.219delC
1 paper
NM_000368.5
p.R75_I76ins1
c.225_226insTGG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."